Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ALG1 gene ALG1 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Renal Congenital disorder of glycosylation, type Ik #608540 27325525 False 1 0;100;0 5.10 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALMS1 gene ALMS1 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Renal Alstrom Syndrome #203800 25846608 False 1 0;100;0 5.10 True ENSG00000116127 ENSG00000116127 HGNC:428 ANKFY1 gene ANKFY1 NHS GMS Proteinuric renal disease Renal 29959197 False 1 0;0;100 5.10 False ENSG00000185722 ENSG00000185722 HGNC:20763 ARHGAP24 gene ARHGAP24 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Renal Focal segmental glomerulosclerosis 21911940 False 1 0;50;50 5.10 True ENSG00000138639 ENSG00000138639 HGNC:25361 CDK20 gene CDK20 NHS GMS Proteinuric renal disease Renal Chronic kidney disease 29773874 False 1 0;0;100 5.10 False ENSG00000156345 ENSG00000156345 HGNC:21420 COL4A1 gene COL4A1 NHS GMS Proteinuric renal disease Renal Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773 27190376 False 1 0;0;100 5.10 False ENSG00000187498 ENSG00000187498 HGNC:2202 COQ7 gene COQ7 NHS GMS Proteinuric renal disease Renal ?Coenzyme Q10 deficiency, primary, 8 #616733 26084283 False 1 0;0;100 5.10 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ9 gene COQ9 NHS GMS Proteinuric renal disease Renal Coenzyme Q10 deficiency, primary, 5 #614654 19375058 False 1 0;0;100 5.10 False ENSG00000088682 ENSG00000088682 HGNC:25302 CYP11B2 gene CYP11B2 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Renal Hypoaldosteronism, congenital, due to CMO I deficiency #203400;Hypoaldosteronism, congenital, due to CMO II deficiency #610600 9814506;24022297 False 1 0;50;50 5.10 True ENSG00000179142 ENSG00000179142 HGNC:2592 DHFR gene DHFR Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Renal Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 5.10 True ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 Expert Review Red;Literature Proteinuric renal disease Renal X-LINKED: hemizygous mutation in males, biallelic mutations in females steroid-resistant 6 nephrotic syndrome;cataracts (prior to steroid treatment);sensorineural deafness;enterocolitis 32554502 False 1 0;0;100 5.10 False ENSG00000130826 ENSG00000130826 HGNC:2890 E2F3 gene E2F3 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Renal FSGS;mental retardation 21372519 False 1 0;0;100 5.10 True ENSG00000112242 ENSG00000112242 HGNC:3115 GAPVD1 gene GAPVD1 NHS GMS Proteinuric renal disease Renal 29959197 False 1 0;100;0 5.10 False ENSG00000165219 ENSG00000165219 HGNC:23375 GIF gene GIF Expert Review Red;Imerslund-Grasbeck syndrome eligibility statement prior genetic testing;NHS GMS Proteinuric renal disease Renal GIF mutations may phenocopy this disorder; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 5.10 True ENSG00000134812 ENSG00000134812 HGNC:4268 IL1RAP gene IL1RAP Expert Review Red;Literature Proteinuric renal disease Renal BIALLELIC, autosomal or pseudoautosomal Steroid-sensitive nephrotic syndrome 31954058 False 1 0;0;100 5.10 False ENSG00000196083 ENSG00000196083 HGNC:5995 ITGB4 gene ITGB4 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Renal Epidermolysis bullosa, junctional, with pyloric stenosis #226730 11328943 False 1 0;100;0 5.10 True ENSG00000132470 ENSG00000132470 HGNC:6158 ITSN2 gene ITSN2 NHS GMS Proteinuric renal disease Renal Early childhood SSNS 29773874 False 1 0;100;0 5.10 False ENSG00000198399 ENSG00000198399 HGNC:6184 KANK1 gene KANK1 NHS GMS Proteinuric renal disease Renal Steroid sensitive resistant nephrotic syndrome 25961457 False 1 0;0;100 5.10 False ENSG00000107104 ENSG00000107104 HGNC:19309 KANK4 gene KANK4 NHS GMS Proteinuric renal disease Renal 25961457 False 1 0;0;100 5.10 False ENSG00000132854 ENSG00000132854 HGNC:27263 LMNA gene LMNA NHS GMS Proteinuric renal disease Renal Partial lipodystrophy and FSGS 24080738;28620495 False 1 0;100;0 5.10 False ENSG00000160789 ENSG00000160789 HGNC:6636 MAFB gene MAFB NHS GMS Proteinuric renal disease Renal FSGS with Duane retraction syndrome 29779709;22387013 False 1 0;100;0 5.10 False ENSG00000204103 ENSG00000204103 HGNC:6408 MED28 gene MED28 NHS GMS Proteinuric renal disease Renal False 1 0;0;100 5.10 False ENSG00000118579 ENSG00000118579 HGNC:24628 MEFV gene MEFV NHS GMS Proteinuric renal disease Renal Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100 False 1 0;100;0 5.10 False ENSG00000103313 ENSG00000103313 HGNC:6998 MTR gene MTR Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Renal Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;50;50 5.10 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Renal Homocystinuria-megaloblastic anemia, cbl E type, 236270; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;50;50 5.10 True ENSG00000124275 ENSG00000124275 HGNC:7473 NEIL1 gene NEIL1 NHS GMS Proteinuric renal disease Renal SRNS 21697813 False 1 0;0;100 5.10 False ENSG00000140398 ENSG00000140398 HGNC:18448 NEU1 gene NEU1 NHS GMS Proteinuric renal disease Renal SRNS 30450471 False 1 0;0;100 5.10 False ENSG00000204386 ENSG00000204386 HGNC:7758 NLRP3 gene NLRP3 NHS GMS Proteinuric renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muckle-Wells syndrome, OMIM:191900;Renal amyloidosis 30431487 False 1 0;0;100 5.10 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOP10 gene NOP10 Expert Review Red;Literature Proteinuric renal disease Renal BIALLELIC, autosomal or pseudoautosomal steroid-resistant 6 nephrotic syndrome;cataracts (prior to steroid treatment);sensorineural deafness;enterocolitis 32554502 False 1 0;0;100 5.10 False ENSG00000182117 ENSG00000182117 HGNC:14378 NPHP4 gene NPHP4 NHS GMS Proteinuric renal disease Renal Nephronophthisis 4 #606966 17954299;26346198 False 1 0;100;0 5.10 False ENSG00000131697 ENSG00000131697 HGNC:19104 NUP160 gene NUP160 NHS GMS Proteinuric renal disease Renal ?Nephrotic syndrome, type 19 #618178 30179222 False 1 0;100;0 5.10 False ENSG00000030066 ENSG00000030066 HGNC:18017 NUP205 gene NUP205 NHS GMS Proteinuric renal disease Renal ?Nephrotic syndrome, type 13 #616893 26878725 False 1 0;100;0 5.10 False ENSG00000155561 ENSG00000155561 HGNC:18658 NXF5 gene NXF5 NHS GMS Proteinuric renal disease Renal FSGS;heart-block disorder 23686279 False 1 0;0;100 5.10 False ENSG00000126952 ENSG00000126952 HGNC:8075 PMM2 gene PMM2 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Renal Congenital disorder of glycosylation, type Ia #212065 19474279;29229467 False 1 0;100;0 5.10 True ENSG00000140650 ENSG00000140650 HGNC:9115 SLC19A2 gene SLC19A2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Proteinuric renal disease Renal BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 False 1 0;0;100 5.10 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Renal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) #607483;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 5.10 True ENSG00000135917 ENSG00000135917 HGNC:16266 SYNPO gene SYNPO NHS GMS Proteinuric renal disease Renal Focal segmental glomerulosclerosis;FSGS 19666657 False 1 0;100;0 5.10 False ENSG00000171992 ENSG00000171992 HGNC:30672 TTC21B gene TTC21B NHS GMS Proteinuric renal disease Renal Nephronophthisis 12 # 613820 26940125;24876116 False 1 0;100;0 5.10 False ENSG00000123607 ENSG00000123607 HGNC:25660 VPS33B gene VPS33B NHS GMS Proteinuric renal disease Renal Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 18853461 False 1 0;100;0 5.10 False ENSG00000184056 ENSG00000184056 HGNC:12712 XPO5 gene XPO5 NHS GMS Proteinuric renal disease Renal Nephrotic syndrome 26878725 False 1 0;0;100 5.10 False ENSG00000124571 ENSG00000124571 HGNC:17675 ZMPSTE24 gene ZMPSTE24 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Renal Mandibuloacral dysplasia with type B lipodystrophy #608612 17152860 False 1 0;100;0 5.10 True ENSG00000084073 ENSG00000084073 HGNC:12877